Incidental Mutation 'R0733:Eml4'
| ID |
67131 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Eml4
|
| Ensembl Gene |
ENSMUSG00000032624 |
| Gene Name |
echinoderm microtubule associated protein like 4 |
| Synonyms |
4930443C24Rik |
| MMRRC Submission |
038914-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.861)
|
| Stock # |
R0733 (G1)
|
| Quality Score |
208 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
83658360-83787790 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 83761893 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 417
(M417K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000041880
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049503]
[ENSMUST00000096766]
[ENSMUST00000112363]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049503
AA Change: M417K
PolyPhen 2
Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000041880
Gene: ENSMUSG00000032624
AA Change: M417K
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
15 |
53 |
N/A |
INTRINSIC |
|
WD40
|
197 |
246 |
1.79e-1 |
SMART |
|
Blast:WD40
|
252 |
294 |
3e-19 |
BLAST |
|
WD40
|
297 |
336 |
5.97e-1 |
SMART |
|
WD40
|
345 |
382 |
2.96e1 |
SMART |
|
low complexity region
|
388 |
396 |
N/A |
INTRINSIC |
|
WD40
|
397 |
436 |
1.48e-2 |
SMART |
|
WD40
|
480 |
519 |
4.95e-4 |
SMART |
|
WD40
|
522 |
560 |
7.92e1 |
SMART |
|
WD40
|
563 |
602 |
5.75e-1 |
SMART |
|
WD40
|
609 |
648 |
2.69e-5 |
SMART |
|
WD40
|
722 |
762 |
8.04e-4 |
SMART |
|
low complexity region
|
793 |
805 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000096766
AA Change: M529K
PolyPhen 2
Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000094528
Gene: ENSMUSG00000032624
AA Change: M529K
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
15 |
53 |
N/A |
INTRINSIC |
|
low complexity region
|
137 |
155 |
N/A |
INTRINSIC |
|
Pfam:HELP
|
236 |
308 |
1.1e-33 |
PFAM |
|
WD40
|
309 |
358 |
1.79e-1 |
SMART |
|
Blast:WD40
|
364 |
406 |
4e-20 |
BLAST |
|
WD40
|
409 |
448 |
5.97e-1 |
SMART |
|
WD40
|
457 |
494 |
2.96e1 |
SMART |
|
low complexity region
|
500 |
508 |
N/A |
INTRINSIC |
|
WD40
|
509 |
548 |
1.48e-2 |
SMART |
|
WD40
|
592 |
631 |
4.95e-4 |
SMART |
|
WD40
|
634 |
672 |
7.92e1 |
SMART |
|
WD40
|
675 |
714 |
5.75e-1 |
SMART |
|
WD40
|
721 |
760 |
2.69e-5 |
SMART |
|
WD40
|
834 |
874 |
8.04e-4 |
SMART |
|
low complexity region
|
905 |
917 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112363
AA Change: M460K
PolyPhen 2
Score 0.102 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000107982
Gene: ENSMUSG00000032624
AA Change: M460K
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
15 |
53 |
N/A |
INTRINSIC |
|
WD40
|
240 |
289 |
1.79e-1 |
SMART |
|
Blast:WD40
|
295 |
337 |
3e-19 |
BLAST |
|
WD40
|
340 |
379 |
5.97e-1 |
SMART |
|
WD40
|
388 |
425 |
2.96e1 |
SMART |
|
low complexity region
|
431 |
439 |
N/A |
INTRINSIC |
|
WD40
|
440 |
479 |
1.48e-2 |
SMART |
|
WD40
|
523 |
562 |
4.95e-4 |
SMART |
|
WD40
|
565 |
603 |
7.92e1 |
SMART |
|
WD40
|
606 |
645 |
5.75e-1 |
SMART |
|
WD40
|
652 |
691 |
2.69e-5 |
SMART |
|
WD40
|
765 |
805 |
8.04e-4 |
SMART |
|
low complexity region
|
836 |
848 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.7467 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 95.9%
|
| Validation Efficiency |
98% (60/61) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the echinoderm microtubule associated protein-like family. The encoded WD-repeat protein may be involved in microtubule formation. Abnormal fusion of parts of this gene with portions of the anaplastic lymphoma receptor tyrosine kinase gene, which generates EML4-ALK fusion transcripts, is one of the primary mutations associated with non-small cell lung cancer. Alternative splicing of this gene results in two transcript variants. [provided by RefSeq, Jan 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abl1 |
A |
G |
2: 31,668,957 (GRCm39) |
Y88C |
probably damaging |
Het |
| Acbd3 |
A |
G |
1: 180,579,783 (GRCm39) |
I476V |
possibly damaging |
Het |
| Apba2 |
T |
C |
7: 64,399,912 (GRCm39) |
I689T |
probably damaging |
Het |
| AU018091 |
A |
G |
7: 3,209,001 (GRCm39) |
Y362H |
probably damaging |
Het |
| Castor2 |
T |
C |
5: 134,165,054 (GRCm39) |
F208L |
possibly damaging |
Het |
| Cdh26 |
T |
C |
2: 178,128,724 (GRCm39) |
S759P |
probably damaging |
Het |
| Clcc1 |
A |
G |
3: 108,582,056 (GRCm39) |
Q387R |
probably benign |
Het |
| Cobl |
C |
T |
11: 12,315,167 (GRCm39) |
G259R |
probably benign |
Het |
| Col4a1 |
C |
T |
8: 11,268,934 (GRCm39) |
R968Q |
possibly damaging |
Het |
| Ddr2 |
A |
G |
1: 169,832,381 (GRCm39) |
|
probably benign |
Het |
| Dera |
C |
A |
6: 137,773,846 (GRCm39) |
N201K |
probably damaging |
Het |
| Dsg1a |
A |
C |
18: 20,471,725 (GRCm39) |
E659A |
probably damaging |
Het |
| Dus2 |
G |
T |
8: 106,772,702 (GRCm39) |
|
probably null |
Het |
| Ears2 |
T |
A |
7: 121,647,352 (GRCm39) |
I311F |
possibly damaging |
Het |
| Exosc4 |
A |
T |
15: 76,213,616 (GRCm39) |
M147L |
probably benign |
Het |
| Fam171a2 |
T |
A |
11: 102,330,548 (GRCm39) |
Y278F |
possibly damaging |
Het |
| Fastk |
A |
C |
5: 24,648,921 (GRCm39) |
H155Q |
probably null |
Het |
| Fem1b |
G |
T |
9: 62,704,125 (GRCm39) |
N378K |
possibly damaging |
Het |
| Fut11 |
C |
A |
14: 20,745,427 (GRCm39) |
Y119* |
probably null |
Het |
| Gm6797 |
T |
C |
X: 8,511,388 (GRCm39) |
|
noncoding transcript |
Het |
| Gstt4 |
T |
C |
10: 75,653,148 (GRCm39) |
D138G |
probably benign |
Het |
| Hprt1 |
G |
A |
X: 52,091,027 (GRCm39) |
C66Y |
probably damaging |
Het |
| Inpp5d |
T |
A |
1: 87,595,799 (GRCm39) |
|
probably benign |
Het |
| Ints6l |
T |
A |
X: 55,547,108 (GRCm39) |
S621T |
probably benign |
Het |
| Ints6l |
C |
G |
X: 55,550,172 (GRCm39) |
A699G |
probably benign |
Het |
| Kctd3 |
A |
G |
1: 188,729,247 (GRCm39) |
|
probably benign |
Het |
| Kntc1 |
G |
T |
5: 123,928,979 (GRCm39) |
V1252L |
probably null |
Het |
| Lama5 |
A |
T |
2: 179,822,511 (GRCm39) |
M2854K |
possibly damaging |
Het |
| Lcn5 |
G |
T |
2: 25,551,113 (GRCm39) |
L187F |
probably damaging |
Het |
| Lrp3 |
A |
T |
7: 34,901,545 (GRCm39) |
L758M |
possibly damaging |
Het |
| Ltn1 |
T |
A |
16: 87,209,395 (GRCm39) |
I740F |
probably benign |
Het |
| Mcm5 |
A |
G |
8: 75,853,876 (GRCm39) |
K710R |
probably benign |
Het |
| Mllt10 |
A |
G |
2: 18,208,577 (GRCm39) |
|
probably benign |
Het |
| Nbr1 |
T |
A |
11: 101,467,197 (GRCm39) |
M864K |
probably benign |
Het |
| Nkiras2 |
T |
C |
11: 100,515,758 (GRCm39) |
|
probably null |
Het |
| Nlrp4d |
T |
A |
7: 10,116,449 (GRCm39) |
E144V |
probably benign |
Het |
| Nppc |
T |
C |
1: 86,597,356 (GRCm39) |
|
probably benign |
Het |
| Ormdl2 |
T |
A |
10: 128,655,868 (GRCm39) |
Q94L |
probably damaging |
Het |
| Paox |
G |
C |
7: 139,707,440 (GRCm39) |
D88H |
probably damaging |
Het |
| Prl7a2 |
T |
C |
13: 27,846,671 (GRCm39) |
E114G |
probably damaging |
Het |
| Prpsap2 |
A |
G |
11: 61,631,826 (GRCm39) |
I177T |
possibly damaging |
Het |
| Prss54 |
T |
C |
8: 96,286,368 (GRCm39) |
D235G |
possibly damaging |
Het |
| Rwdd3 |
T |
C |
3: 120,965,256 (GRCm39) |
M24V |
probably benign |
Het |
| Serpinb6e |
T |
A |
13: 34,025,201 (GRCm39) |
N30I |
probably benign |
Het |
| Sh3rf1 |
G |
A |
8: 61,825,594 (GRCm39) |
A530T |
probably benign |
Het |
| Slc28a1 |
T |
C |
7: 80,774,648 (GRCm39) |
I165T |
probably benign |
Het |
| Slco6d1 |
T |
A |
1: 98,355,994 (GRCm39) |
L143* |
probably null |
Het |
| Snrnp40 |
C |
G |
4: 130,271,836 (GRCm39) |
|
probably null |
Het |
| Snx27 |
A |
G |
3: 94,469,320 (GRCm39) |
L7P |
probably benign |
Het |
| Spata31e2 |
T |
A |
1: 26,722,013 (GRCm39) |
T1056S |
possibly damaging |
Het |
| Spsb1 |
C |
T |
4: 149,991,374 (GRCm39) |
V65I |
probably benign |
Het |
| St8sia2 |
C |
T |
7: 73,610,588 (GRCm39) |
G232S |
probably benign |
Het |
| Sun1 |
A |
G |
5: 139,216,918 (GRCm39) |
H255R |
possibly damaging |
Het |
| Tent2 |
T |
A |
13: 93,291,547 (GRCm39) |
Q365L |
probably benign |
Het |
| Ube2k |
A |
G |
5: 65,738,795 (GRCm39) |
I95V |
probably damaging |
Het |
| Ube2m |
C |
A |
7: 12,769,679 (GRCm39) |
E126D |
probably damaging |
Het |
| Vmn2r27 |
A |
T |
6: 124,169,147 (GRCm39) |
M661K |
probably benign |
Het |
| Wdr47 |
A |
T |
3: 108,525,939 (GRCm39) |
D154V |
probably damaging |
Het |
| Zfp113 |
A |
G |
5: 138,143,845 (GRCm39) |
V135A |
probably benign |
Het |
|
| Other mutations in Eml4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00718:Eml4
|
APN |
17 |
83,755,613 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL00815:Eml4
|
APN |
17 |
83,758,219 (GRCm39) |
splice site |
probably benign |
|
|
IGL01969:Eml4
|
APN |
17 |
83,753,409 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
IGL02005:Eml4
|
APN |
17 |
83,785,132 (GRCm39) |
splice site |
probably benign |
|
|
IGL02273:Eml4
|
APN |
17 |
83,763,808 (GRCm39) |
splice site |
probably null |
|
|
IGL02318:Eml4
|
APN |
17 |
83,748,795 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02421:Eml4
|
APN |
17 |
83,785,321 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02728:Eml4
|
APN |
17 |
83,780,568 (GRCm39) |
splice site |
probably null |
|
|
IGL02814:Eml4
|
APN |
17 |
83,748,791 (GRCm39) |
nonsense |
probably null |
|
|
IGL02900:Eml4
|
APN |
17 |
83,785,421 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03205:Eml4
|
APN |
17 |
83,761,873 (GRCm39) |
missense |
probably damaging |
1.00 |
|
erring
|
UTSW |
17 |
83,755,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0147:Eml4
|
UTSW |
17 |
83,729,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0148:Eml4
|
UTSW |
17 |
83,729,081 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0440:Eml4
|
UTSW |
17 |
83,753,487 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0541:Eml4
|
UTSW |
17 |
83,747,471 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0645:Eml4
|
UTSW |
17 |
83,770,922 (GRCm39) |
splice site |
probably benign |
|
|
R0944:Eml4
|
UTSW |
17 |
83,785,489 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1071:Eml4
|
UTSW |
17 |
83,785,468 (GRCm39) |
nonsense |
probably null |
|
|
R1975:Eml4
|
UTSW |
17 |
83,717,622 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2042:Eml4
|
UTSW |
17 |
83,755,607 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2229:Eml4
|
UTSW |
17 |
83,758,485 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2257:Eml4
|
UTSW |
17 |
83,785,189 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2878:Eml4
|
UTSW |
17 |
83,717,603 (GRCm39) |
missense |
probably benign |
0.01 |
|
R3820:Eml4
|
UTSW |
17 |
83,780,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4466:Eml4
|
UTSW |
17 |
83,729,103 (GRCm39) |
nonsense |
probably null |
|
|
R4620:Eml4
|
UTSW |
17 |
83,768,962 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4657:Eml4
|
UTSW |
17 |
83,758,377 (GRCm39) |
nonsense |
probably null |
|
|
R4717:Eml4
|
UTSW |
17 |
83,755,654 (GRCm39) |
missense |
probably benign |
0.38 |
|
R4740:Eml4
|
UTSW |
17 |
83,717,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5073:Eml4
|
UTSW |
17 |
83,771,006 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5699:Eml4
|
UTSW |
17 |
83,717,514 (GRCm39) |
missense |
probably benign |
0.16 |
|
R5834:Eml4
|
UTSW |
17 |
83,785,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5944:Eml4
|
UTSW |
17 |
83,753,472 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6044:Eml4
|
UTSW |
17 |
83,753,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6378:Eml4
|
UTSW |
17 |
83,755,646 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6980:Eml4
|
UTSW |
17 |
83,758,446 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7025:Eml4
|
UTSW |
17 |
83,732,740 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7037:Eml4
|
UTSW |
17 |
83,732,756 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7042:Eml4
|
UTSW |
17 |
83,768,999 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7192:Eml4
|
UTSW |
17 |
83,761,890 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7525:Eml4
|
UTSW |
17 |
83,753,379 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7548:Eml4
|
UTSW |
17 |
83,732,766 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7595:Eml4
|
UTSW |
17 |
83,763,513 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7791:Eml4
|
UTSW |
17 |
83,781,135 (GRCm39) |
missense |
probably benign |
0.45 |
|
R7866:Eml4
|
UTSW |
17 |
83,758,126 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7936:Eml4
|
UTSW |
17 |
83,781,115 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R8435:Eml4
|
UTSW |
17 |
83,729,070 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R8447:Eml4
|
UTSW |
17 |
83,755,656 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8698:Eml4
|
UTSW |
17 |
83,785,345 (GRCm39) |
missense |
probably benign |
|
|
R9026:Eml4
|
UTSW |
17 |
83,764,479 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9054:Eml4
|
UTSW |
17 |
83,734,640 (GRCm39) |
splice site |
probably benign |
|
|
R9630:Eml4
|
UTSW |
17 |
83,717,572 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9765:Eml4
|
UTSW |
17 |
83,747,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Eml4
|
UTSW |
17 |
83,753,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTCTGCGAATTCACCCTGTAGCTC -3'
(R):5'- CTATGTGACATACGCCCAGTGTCC -3'
Sequencing Primer
(F):5'- CCTGTAGCTCTGCTAAAGCTGG -3'
(R):5'- ccgcctgcctctgcttc -3'
|
| Posted On |
2013-09-03 |
Incidental Mutation